Retrospective Study
Copyright ©The Author(s) 2024.
World J Clin Pediatr. Dec 9, 2024; 13(4): 100493
Published online Dec 9, 2024. doi: 10.5409/wjcp.v13.i4.100493
Table 3 Patient characteristics, biological profiles at the time of clinical diagnosis and at the last of follow-up
Patient
number
SexAge at clinical Dx (year)Time from clinical Dx to molecular Dx (year)First presentationGrowth and nutritional statusBiochemical result
Follow-up time (year)
Clinical and biological profiles at the last follow-up
AST (U/L)
ALT (U/L)
BS (mg/dL)
TC (mg/dL)
TG (mg/dL)
Uric Acid (mg/dL)
Growth and nutritional status
AST (U/L)
    ALT(U/L)
BS (mg/dL)
TC (mg/dL)
TG (mg/dL)
Uric Acid (mg/dL)
GSD I
5F14.712.52Hepatomegaly, recurrent epistaxisWasting/
stunting
11867532103768.613.8Stunting3328581793969.7
GSD III
3F3.028.49HepatomegalyNormal43021341482416225.111.5Overweight510375722051248
4F1.4312.22HepatomegalyNormal629547201381193.312.3Normal332878137635.8
6M2.623.06Hepatomegaly, doll-like faciesStunting1878854301802316.13.1Normal626408351842036.8
GSD VI
2F1.759.24HepatomegalyWasting746736563053356.912.5Normal151483137896.1
7F3.082.08HepatomegalyStunting7264922561894.32.1Normal5540722261045.9
8M1.351.10Hepatomegaly, doll-like faciesOverweight/
stunting
920665552463033.91.8Overweight7290861701005.4
GSD IX
1M1.72.75Hepatomegaly, doll-like faciesStunting1531439341451595.36.48Overweight/stunting1617884145975.2